Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut RASL11B 65997 broad.mit.edu 37 4 53731672 53731672 + Silent SNP C C T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr4:53731672C>T ENST00000248706.3 + 4 665 c.447C>T c.(445-447)gtC>gtT p.V149V RASL11B_ENST00000505041.1_3'UTR NM_023940.2 NP_076429.1 Q9BPW5 RSLBB_HUMAN RAS-like, family 11, member B 149 Small GTPase-like. small GTPase mediated signal transduction membrane GTP binding|GTPase activity autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1) 9 LUSC - Lung squamous cell carcinoma(32;0.0302) CTGTGGTGGTCGTGGCCAACA 0.547000 5 138 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152192788 152192788 + Silent SNP G G A TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr1:152192788G>A ENST00000368801.2 - 3 1392 c.1317C>T c.(1315-1317)tcC>tcT p.S439S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 439 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGTTGGCCGGAGCTGGGAG 0.617000 4 131 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr2:97869931A>T ENST00000420699.2 + 50 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289000 4 22 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 135 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41038870 41038870 + Missense_Mutation SNP G G T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr5:41038870G>T ENST00000399564.4 - 21 2632 c.2182C>A c.(2182-2184)Caa>Aaa p.Q728K MROH2B_ENST00000506092.2_Missense_Mutation_p.Q283K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GACAGGACTTGGGATATGATA 0.517000 3 33 0.115264 0.115264 1 1 0 ZSCAN31 64288 broad.mit.edu 37 6 28294493 28294493 + Missense_Mutation SNP C C T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr6:28294493C>T ENST00000414429.1 - 8 1574 c.671G>A c.(670-672)aGc>aAc p.S224N ZSCAN31_ENST00000396838.2_Missense_Mutation_p.S224N|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.S65N|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.S224N|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.S224N zinc finger and SCAN domain containing 31 TTCTGCCTTGCTGTCTCGTTT 0.423000 6 124 0 0 1 0 0 TEAD4 7004 broad.mit.edu 37 12 3131089 3131089 + Missense_Mutation SNP G G A TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr12:3131089G>A ENST00000359864.2 + 10 993 c.803G>A c.(802-804)cGc>cAc p.R268H TEAD4_ENST00000397122.2_Missense_Mutation_p.R139H|TEAD4_ENST00000358409.2_Missense_Mutation_p.R225H NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 268 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) GTGGACATCCGCCAAATCTAT 0.527000 5 151 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814297 123814297 + Silent SNP G G A TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr11:123814297G>A ENST00000321252.2 - 1 283 c.249C>T c.(247-249)gtC>gtT p.V83V NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V83V(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TGAGGATGACGACAAGCATCT 0.507000 4 75 0 0 1 0 0 SCAF8 22828 broad.mit.edu 37 6 155154083 155154083 + Missense_Mutation SNP C C T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr6:155154083C>T ENST00000367178.3 + 20 3946 c.3370C>T c.(3370-3372)Cgg>Tgg p.R1124W SCAF8_ENST00000417268.1_Missense_Mutation_p.R1124W|TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.R1190W NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 1124 Arg-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 AGGTAGATTTCGGTCTGGAAA 0.478000 23 39 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102303120 102303120 + RNA SNP C C G TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr15:102303120C>G ENST00000561463.1 + 0 11166 CTTCTCAGAGCTGCTGTCCAA 0.592000 5 36 0 0 1 0 0 DIS3L 115752 broad.mit.edu 37 15 66607419 66607419 + Missense_Mutation SNP G G A TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr15:66607419G>A ENST00000319194.5 + 7 872 c.611G>A c.(610-612)cGc>cAc p.R204H DIS3L_ENST00000441424.2_Missense_Mutation_p.R153H|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Missense_Mutation_p.R287H NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 287 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GCTCGAAACCGCTCAATTCAT 0.478000 4 100 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56044743 56044743 + Silent SNP G G A TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr6:56044743G>A ENST00000244728.5 - 3 670 c.273C>T c.(271-273)ctC>ctT p.L91L COL21A1_ENST00000370819.1_Silent_p.L91L|COL21A1_ENST00000535941.1_Silent_p.L91L NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 91 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CATAGCTTCCGAGAGGAATCT 0.453000 9 22 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71142222 71142222 + Silent SNP C C A TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr7:71142222C>A ENST00000333538.5 + 9 2065 c.1431C>A c.(1429-1431)gtC>gtA p.V477V WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 477 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CAAAAGACGTCTGCTTGGACC 0.542000 5 262 2.0095e-06 2.08127e-06 1 1 0 FKBP8 23770 broad.mit.edu 37 19 18648510 18648510 + Silent SNP C C T rs146804732 byFrequency TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr19:18648510C>T ENST00000597960.2 - 6 966 c.846G>A c.(844-846)tcG>tcA p.S282S FKBP8_ENST00000222308.3_Silent_p.S282S|FKBP8_ENST00000544835.2_Silent_p.S122S|FKBP8_ENST00000453489.2_Silent_p.S310S|FKBP8_ENST00000596558.1_Silent_p.S281S Q14318 FKBP8_HUMAN FK506 binding protein 8, 38kDa 281 apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 GCTTCAGCTGCGAGGCCGCCA 0.617000 22 62 0 0 1 0 0 IGHG3 3502 broad.mit.edu 37 14 106237582 106237582 + RNA SNP C C T rs2983776 TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr14:106237582C>T ENST00000390551.2 - 0 160 GTAGGACAGCCGGGAAGGTGT 0.637000 4 64 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Splice_Site SNP C C T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr12:106820975C>T ENST00000228347.4 + 13 1324 c.1101_splice c.e13-1 p.L368_splice POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L368F(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTTTTTTAGCTTTTATCTCT 0.274000 6 14 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220466101 220466101 + Missense_Mutation SNP C C T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr2:220466101C>T ENST00000456909.1 + 3 296 c.206C>T c.(205-207)tCc>tTc p.S69F STK11IP_ENST00000295641.10_Missense_Mutation_p.S80F|STK11IP_ENST00000459692.1_3'UTR Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 80 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTGCCGACTCCCCTGTTATT 0.567000 5 37 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154940727 154940727 + Missense_Mutation SNP C C T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr1:154940727C>T ENST00000448116.2 - 5 977 c.757G>A c.(757-759)Gcc>Acc p.A253T SHC1_ENST00000368450.1_Missense_Mutation_p.A143T|SHC1_ENST00000368445.5_Missense_Mutation_p.A253T|SHC1_ENST00000368449.4_Missense_Mutation_p.A24T|SHC1_ENST00000606391.1_Missense_Mutation_p.A54T|SHC1_ENST00000368453.4_Missense_Mutation_p.A143T NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 253 PID. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGGTGGTTGGCGATGATCTGA 0.567000 5 279 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 57 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21970988 21970988 + Missense_Mutation SNP G G A rs34170727 TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr9:21970988G>A ENST00000304494.5 - 2 640 c.370C>T c.(370-372)Cgc>Tgc p.R124C CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R73C|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R73C|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R124C|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R73C|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R124C|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R73C|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R73C NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 124 R -> C (in dbSNP:rs34170727).|R -> H (in an esophagus tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(13)|p.R124fs*22(2)|p.0(1)|p.A118fs*10(1)|p.L121fs*21(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCGACATCGCGATGGCCCAGC 0.711000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 21 21 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127674230 127674230 + Missense_Mutation SNP G G C TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr9:127674230G>C ENST00000373555.4 - 11 1252 c.919C>G c.(919-921)Cta>Gta p.L307V NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 307 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 TTCTGTTCTAGTCTCTTCTCC 0.453000 7 66 0 0 1 0 0 RPL32P3 132241 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C C T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr3:129116038C>T ENST00000514355.1 - 0 412 lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 4 98 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369997 20369997 + RNA SNP C C T TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr19:20369997C>T ENST00000593655.1 - 0 199 ACGGTTGAAACGAGAACTTAA 0.413000 7 88 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71715362 71715362 + Frame_Shift_Del DEL G G - TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr11:71715362delG ENST00000393695.3 - 25 6363 c.6032delC c.(6031-6033)cafs p.P2011fs NUMA1_ENST00000358965.6_Frame_Shift_Del_p.P1997fs|NUMA1_ENST00000351960.6_Frame_Shift_Del_p.P875fs NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 2011 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CATGGGGCGTGGGAAACAGCT 0.542 T RARA APL 21 49 --- --- --- --- PREX1 57580 broad.mit.edu 37 20 47444201 47444201 + Frame_Shift_Del DEL C C - TCGA-QR-A6H6-01A-11D-A35D-08 TCGA-QR-A6H6-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac18eca3-999a-48c2-9f96-76b69e4b8395 ef2fc228-103c-4c7e-b676-179029a08831 g.chr20:47444201delC ENST00000396220.1 - 1 219 c.197delG c.(196-198)gcfs p.G66fs PREX1_ENST00000371941.3_Frame_Shift_Del_p.G66fs Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 66 DH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCGCAAGGTGCCCACGTAGTC 0.716 2 4 --- --- --- ---